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rs80358893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358893(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341011
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358893
ebirs80358893
HLIrs80358893
Exacrs80358893
Varsomers80358893
Maprs80358893
PheGenIrs80358893
hapmaprs80358893
1000 genomesrs80358893
hgdprs80358893
ensemblrs80358893
gopubmedrs80358893
geneviewrs80358893
scholarrs80358893
googlers80358893
pharmgkbrs80358893
gwascentralrs80358893
openSNPrs80358893
23andMers80358893
23andMe allrs80358893
SNP Nexus

SNPshotrs80358893
SNPdbers80358893
MSV3drs80358893
GWAS Ctlgrs80358893
Max Magnitude6
rs80358893, also known as S2219X, c.6656C>G and p.Ser2219Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358893(G;G)
Alt rs80358893(G;G)
Reference rs80358893(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915148C>G
CLNSRC ClinVar
CLNACC RCV000045010.2, RCV000113622.1,